Canonical Allele Identifier: CA2579829594

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249884T>A , CM000673.2:g.5249884T>A GRCh38
NC_000011.9:g.5271114T>A , CM000673.1:g.5271114T>A GRCh37
NC_000011.8:g.5227690T>A NCBI36
NG_000007.3:g.47732A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1397A>T ENSP00000495346.1:n.316-1397A>T
ENST00000647543.1:c.379-1397A>T ENSP00000496470.1:n.379-1397A>T
ENST00000330597.3:c.-80A>T (HBG1) ENSP00000327431.3:n.-80A>T
ENST00000620888.4:c.316-1397A>T (HBG2) ENSP00000479637.1:n.316-1397A>T